Canonical Allele Identifier: CA2501826198
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128485597_128485598insTGGTCGCGAGCTGGCGGCCGCGTGCGGCGGCACGGTCGCGGTGGACG , CM000665.2:g.128485597_128485598insTGGTCGCGAGCTGGCGGCCGCGTGCGGCGGCACGGTCGCGGTGGACG GRCh38
NC_000003.11:g.128204440_128204441insTGGTCGCGAGCTGGCGGCCGCGTGCGGCGGCACGGTCGCGGTGGACG , CM000665.1:g.128204440_128204441insTGGTCGCGAGCTGGCGGCCGCGTGCGGCGGCACGGTCGCGGTGGACG GRCh37
NC_000003.10:g.129687130_129687131insTGGTCGCGAGCTGGCGGCCGCGTGCGGCGGCACGGTCGCGGTGGACG NCBI36
NG_029334.1:g.12590_12591insCGTCCACCGCGACCGTGCCGCCGCACGCGGCCGCCAGCTCGCGACCA , LRG_295:g.12590_12591insCGTCCACCGCGACCGTGCCGCCGCACGCGGCCGCCAGCTCGCGACCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.871+129_871+130insCGTCCACCGCGACCGTGCCGCCGCACGCGGCCGCCAGCTCGCGACCA MANE Plus Clinical ENSP00000417074.1:n.871+129_871+130insCGTCCACCGCGACCGTGCCGCCG...
ENST00000696466.1:c.1153+129_1153+130insCGTCCACCGCGACCGTGCCGCCGCACGCGGCCGCCAGCTCGCGACCA ENSP00000512647.1:n.1153+129_1153+130insCGTCCACCGCGACCGTGCCGC...
ENST00000341105.7:c.871+129_871+130insCGTCCACCGCGACCGTGCCGCCGCACGCGGCCGCCAGCTCGCGACCA MANE Select ENSP00000345681.2:n.871+129_871+130insCGTCCACCGCGACCGTGCCGCCG...
ENST00000341105.6:c.871+129_871+130insCGTCCACCGCGACCGTGCCGCCGCACGCGGCCGCCAGCTCGCGACCA ENSP00000345681.2:n.871+129_871+130insCGTCCACCGCGACCGTGCCGCCG...
ENST00000430265.6:c.871+129_871+130insCGTCCACCGCGACCGTGCCGCCGCACGCGGCCGCCAGCTCGCGACCA ENSP00000400259.2:n.871+129_871+130insCGTCCACCGCGACCGTGCCGCCG...
ENST00000487848.5:c.871+129_871+130insCGTCCACCGCGACCGTGCCGCCGCACGCGGCCGCCAGCTCGCGACCA ENSP00000417074.1:n.871+129_871+130insCGTCCACCGCGACCGTGCCGCCG...
NM_001145661.1:c.871+129_871+130insCGTCCACCGCGACCGTGCCGCCGCACGCGGCCGCCAGCTCGCGACCA , LRG_295t1:c.871+129_871+130insCGTCCACCGCGACCGTGCCGCCGCACGCGGCCGCCAGCTCGCGACCA NP_001139133.1:n.871+129_871+130insCGTCCACCGCGACCGTGCCGCCGCAC...
NM_001145662.1:c.871+129_871+130insCGTCCACCGCGACCGTGCCGCCGCACGCGGCCGCCAGCTCGCGACCA NP_001139134.1:n.871+129_871+130insCGTCCACCGCGACCGTGCCGCCGCAC...
NM_032638.4:c.871+129_871+130insCGTCCACCGCGACCGTGCCGCCGCACGCGGCCGCCAGCTCGCGACCA , LRG_295t2:c.871+129_871+130insCGTCCACCGCGACCGTGCCGCCGCACGCGGCCGCCAGCTCGCGACCA NP_116027.2:n.871+129_871+130insCGTCCACCGCGACCGTGCCGCCGCACGCG...
NM_001145661.2:c.871+129_871+130insCGTCCACCGCGACCGTGCCGCCGCACGCGGCCGCCAGCTCGCGACCA MANE Plus Clinical NP_001139133.1:n.871+129_871+130insCGTCCACCGCGACCGTGCCGCCGCAC...
NM_032638.5:c.871+129_871+130insCGTCCACCGCGACCGTGCCGCCGCACGCGGCCGCCAGCTCGCGACCA MANE Select NP_116027.2:n.871+129_871+130insCGTCCACCGCGACCGTGCCGCCGCACGCG...